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Fetal anomalies v0.1362 SPEF2 Zornitza Stark Marked gene: SPEF2 as ready
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Classified gene: SPEF2 as Red List (low evidence)
Fetal anomalies v0.1362 SPEF2 Zornitza Stark Gene: spef2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.1361 SPEF2 Krithika Murali gene: SPEF2 was added
gene: SPEF2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643
Phenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype
Review for gene: SPEF2 was set to RED
Added comment: Biallelic variants associated with sperm morphological abnormalities. In some individuals recurrent sinopulmonary infections and bronchiectasis noted consistent with PCD-like phenotype. Mouse model showed infertility phenotype, hydrocephalus, sinusitis. No fetal phenotype reported.
Sources: Literature